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Pkp1
Gene Detail
Symbol

Name
ID
Pkp1
plakophilin 1
MGI:1328359
Feature Type
protein coding gene
Genetic Map
Chromosome 1
59.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:135871395-135919207 bp, - strand
From VEGA annotation of GRCm38

  47813 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:253  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 2 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PKP1
Gene Tree: Pkp1

Human
homologs
PKP1, plakophilin 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5317
neXtProt AC: NX_Q13835

Human Synonyms: B6P

Human Chr (Location): 1q32; chr1:201283452-201332993 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PKP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Pkp1 interacts with 268 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell adhesion, intermediate filament bundle assembly, ...
Component cell junction, desmosome, ...
Function lamin binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (81)    Tissues (15)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 79
cDNA source data(51)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pkp1 ; ZFIN pkp1b    NEW 
Molecular
reagents
All nucleic(51) cDNA(51)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022498 (Evidence)
Ensembl Gene Model ENSMUSG00000026413 (Evidence)
Entrez Gene 18772 (Evidence)
UniGene 4494
DFCI TC1581735
DoTS DT.487695
NIA Mouse Gene Index U021810
Consensus CDS Project CCDS15322.1
International Mouse Phenotyping Consortium Status Pkp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022498 VEGA Gene Model | MGI Sequence Detail 47813 C57BL/6J ±  kb
transcript OTTMUST00000053857 VEGA | MGI Sequence Detail 4669 Not Applicable 
polypeptide OTTMUSP00000025630 VEGA | MGI Sequence Detail 728 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(480 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000225 Armadillo
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
Protein Ontology PR:000012790 plakophilin-1
References
(Earliest) J:113690 Hatzfeld M, et al., Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. J Cell Sci. 1994 Aug;107(Pt 8):2259-70
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(37)
Other
accession IDs
MGI:2138285

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory